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21.
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A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan. [electronic resource] by
- Sethi, Mieran
- Haque, Shaheen
- Fawcett, Heather
- Wing, Jonathan F
- Chandler, Natalie
- Mohammed, Shehla
- Frayling, Ian M
- Norris, Paul G
- McGibbon, David
- Young, Antony R
- Sarkany, Robert P E
- Lehmann, Alan R
- Fassihi, Hiva
Producer: 20160816
In:
The Journal of investigative dermatology vol. 136
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The predicted impact and cost-effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome. [electronic resource] by
- Kang, Yoon-Jung
- Killen, James
- Caruana, Michael
- Simms, Kate
- Taylor, Natalie
- Frayling, Ian M
- Snowsill, Tristan
- Huxley, Nicola
- Coupe, Veerle Mh
- Hughes, Suzanne
- Freeman, Victoria
- Boussioutas, Alex
- Trainer, Alison H
- Ward, Robyn L
- Mitchell, Gillian
- Macrae, Finlay A
- Canfell, Karen
Producer: 20200331
In:
The Medical journal of Australia vol. 212
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Breast cancer risk in neurofibromatosis type 1 is a function of the type of [electronic resource] by
- Frayling, Ian M
- Mautner, Victor-Felix
- van Minkelen, Rick
- Kallionpaa, Roope A
- Aktaş, Safiye
- Baralle, Diana
- Ben-Shachar, Shay
- Callaway, Alison
- Cox, Harriet
- Eccles, Diana M
- Ferkal, Salah
- LaDuca, Holly
- Lázaro, Conxi
- Rogers, Mark T
- Stuenkel, Aaron J
- Summerour, Pia
- Varan, Ali
- Yap, Yoon Sim
- Zehou, Ouidad
- Peltonen, Juha
- Evans, D Gareth
- Wolkenstein, Pierre
- Upadhyaya, Meena
Producer: 20200522
In:
Journal of medical genetics vol. 56
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Urgent improvements needed to diagnose and manage Lynch syndrome. [electronic resource] by
- Monahan, Kevin J
- Alsina, Deborah
- Bach, Simon
- Buchanan, James
- Burn, John
- Clark, Sue
- Dawson, Peter
- De Souza, Bianca
- Din, Farhat V N
- Dolwani, Sunil
- Dunlop, Malcolm G
- East, James
- Evans, D Gareth
- Fearnhead, Nicola
- Frayling, Ian M
- Glynne-Jones, Rob
- Hill, James
- Houlston, Richard
- Hull, Mark
- Lalloo, Fiona
- Latchford, Andrew
- Lishman, Suzy
- Quirke, Phil
- Rees, Colin
- Rutter, Matt
- Sasieni, Peter
- Senapati, Asha
- Speake, Doug
- Thomas, Huw
- Tomlinson, Ian
Producer: 20171109
In:
BMJ (Clinical research ed.) vol. 356
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The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. [electronic resource] by
- Crosbie, Emma J
- Ryan, Neil A J
- Arends, Mark J
- Bosse, Tjalling
- Burn, John
- Cornes, Joanna M
- Crawford, Robin
- Eccles, Diana
- Frayling, Ian M
- Ghaem-Maghami, Sadaf
- Hampel, Heather
- Kauff, Noah D
- Kitchener, Henry C
- Kitson, Sarah J
- Manchanda, Ranjit
- McMahon, Raymond F T
- Monahan, Kevin J
- Menon, Usha
- Møller, Pål
- Möslein, Gabriela
- Rosenthal, Adam
- Sasieni, Peter
- Seif, Mourad W
- Singh, Naveena
- Skarrott, Pauline
- Snowsill, Tristan M
- Steele, Robert
- Tischkowitz, Marc
- Evans, D Gareth
Producer: 20200317
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. [electronic resource] by
- Rauen, Katherine A
- Alsaegh, Abeer
- Ben-Shachar, Shay
- Berman, Yemima
- Blakeley, Jaishri
- Cordeiro, Isabel
- Elgersma, Ype
- Evans, D Gareth
- Fisher, Michael J
- Frayling, Ian M
- George, Joshi
- Huson, Susan M
- Kerr, Bronwyn
- Khire, Uday
- Korf, Bruce
- Legius, Eric
- Messiaen, Ludwine
- van Minkelen, Rick
- Nampoothiri, Sheela
- Ngeow, Joanne
- Parada, Luis F
- Phadke, Shubha
- Pillai, Ashok
- Plotkin, Scott R
- Puri, Ratna
- Raji, Anup
- Ramesh, Vijaya
- Ratner, Nancy
- Shankar, Suma P
- Sharda, Sheetal
- Tambe, Anant
- Vikkula, Miikka
- Widemann, Brigitte C
- Wolkenstein, Pierre
- Upadhyaya, Meena
Producer: 20200610
In:
American journal of medical genetics. Part A vol. 179
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Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. [electronic resource] by
- Møller, Pål
- Seppälä, Toni
- Bernstein, Inge
- Holinski-Feder, Elke
- Sala, Paola
- Evans, D Gareth
- Lindblom, Annika
- Macrae, Finlay
- Blanco, Ignacio
- Sijmons, Rolf
- Jeffries, Jacqueline
- Vasen, Hans
- Burn, John
- Nakken, Sigve
- Hovig, Eivind
- Rødland, Einar Andreas
- Tharmaratnam, Kukatharmini
- de Vos Tot Nederveen Cappel, Wouter H
- Hill, James
- Wijnen, Juul
- Green, Kate
- Lalloo, Fiona
- Sunde, Lone
- Mints, Miriam
- Bertario, Lucio
- Pineda, Marta
- Navarro, Matilde
- Morak, Monika
- Renkonen-Sinisalo, Laura
- Frayling, Ian M
- Plazzer, John-Paul
- Pylvanainen, Kirsi
- Sampson, Julian R
- Capella, Gabriel
- Mecklin, Jukka-Pekka
- Möslein, Gabriela
Producer: 20170707
In:
Gut vol. 66
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Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. [electronic resource] by
- Vasen, Hans F A
- Blanco, Ignacio
- Aktan-Collan, Katja
- Gopie, Jessica P
- Alonso, Angel
- Aretz, Stefan
- Bernstein, Inge
- Bertario, Lucio
- Burn, John
- Capella, Gabriel
- Colas, Chrystelle
- Engel, Christoph
- Frayling, Ian M
- Genuardi, Maurizio
- Heinimann, Karl
- Hes, Frederik J
- Hodgson, Shirley V
- Karagiannis, John A
- Lalloo, Fiona
- Lindblom, Annika
- Mecklin, Jukka-Pekka
- Møller, Pal
- Myrhoj, Torben
- Nagengast, Fokko M
- Parc, Yann
- Ponz de Leon, Maurizio
- Renkonen-Sinisalo, Laura
- Sampson, Julian R
- Stormorken, Astrid
- Sijmons, Rolf H
- Tejpar, Sabine
- Thomas, Huw J W
- Rahner, Nils
- Wijnen, Juul T
- Järvinen, Heikki Juhani
- Möslein, Gabriela
Producer: 20130702
In:
Gut vol. 62
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Colorectal cancer incidence in [electronic resource] by
- Seppälä, Toni
- Pylvänäinen, Kirsi
- Evans, Dafydd Gareth
- Järvinen, Heikki
- Renkonen-Sinisalo, Laura
- Bernstein, Inge
- Holinski-Feder, Elke
- Sala, Paola
- Lindblom, Annika
- Macrae, Finlay
- Blanco, Ignacio
- Sijmons, Rolf
- Jeffries, Jacqueline
- Vasen, Hans
- Burn, John
- Nakken, Sigve
- Hovig, Eivind
- Rødland, Einar Andreas
- Tharmaratnam, Kukatharmini
- de Vos Tot Nederveen Cappel, Wouter H
- Hill, James
- Wijnen, Juul
- Jenkins, Mark
- Genuardi, Maurizio
- Green, Kate
- Lalloo, Fiona
- Sunde, Lone
- Mints, Miriam
- Bertario, Lucio
- Pineda, Marta
- Navarro, Matilde
- Morak, Monika
- Frayling, Ian M
- Plazzer, John-Paul
- Sampson, Julian R
- Capella, Gabriel
- Möslein, Gabriela
- Mecklin, Jukka-Pekka
- Møller, Pål
Publication details: Hereditary cancer in clinical practice 2017
In:
Hereditary cancer in clinical practice vol. 15
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30.
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Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. [electronic resource] by
- Møller, Pål
- Seppälä, Toni
- Bernstein, Inge
- Holinski-Feder, Elke
- Sala, Paola
- Evans, D Gareth
- Lindblom, Annika
- Macrae, Finlay
- Blanco, Ignacio
- Sijmons, Rolf
- Jeffries, Jacqueline
- Vasen, Hans
- Burn, John
- Nakken, Sigve
- Hovig, Eivind
- Rødland, Einar Andreas
- Tharmaratnam, Kukatharmini
- de Vos Tot Nederveen Cappel, Wouter H
- Hill, James
- Wijnen, Juul
- Jenkins, Mark
- Green, Kate
- Lalloo, Fiona
- Sunde, Lone
- Mints, Miriam
- Bertario, Lucio
- Pineda, Marta
- Navarro, Matilde
- Morak, Monika
- Renkonen-Sinisalo, Laura
- Frayling, Ian M
- Plazzer, John-Paul
- Pylvanainen, Kirsi
- Genuardi, Maurizio
- Mecklin, Jukka-Pekka
- Möslein, Gabriela
- Sampson, Julian R
- Capella, Gabriel
Producer: 20170905
In:
Gut vol. 66
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Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features. [electronic resource] by
- Jiang, Wu
- Cai, Mu-Yan
- Li, Shi-Yong
- Bei, Jin-Xin
- Wang, Fang
- Hampel, Heather
- Ling, Yi-Hong
- Frayling, Ian M
- Sinicrope, Frank A
- Rodriguez-Bigas, Miguel A
- Dignam, James J
- Kerr, David J
- Rosell, Rafael
- Mao, Mao
- Li, Ji-Bin
- Guo, Yun-Miao
- Wu, Xiao-Yan
- Kong, Ling-Heng
- Tang, Jing-Hua
- Wu, Xiao-Dan
- Li, Chao-Feng
- Chen, Jie-Rong
- Ou, Qing-Jian
- Ye, Ming-Zhi
- Guo, Feng-Ming
- Han, Peng
- Wang, Qi-Wei
- Wan, De-Sen
- Li, Li
- Xu, Rui-Hua
- Pan, Zhi-Zhong
- Ding, Pei-Rong
Producer: 20190808
In:
International journal of cancer vol. 144
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32.
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Cancer risk and survival in [electronic resource] by
- Møller, Pål
- Seppälä, Toni T
- Bernstein, Inge
- Holinski-Feder, Elke
- Sala, Paulo
- Gareth Evans, D
- Lindblom, Annika
- Macrae, Finlay
- Blanco, Ignacio
- Sijmons, Rolf H
- Jeffries, Jacqueline
- Vasen, Hans F A
- Burn, John
- Nakken, Sigve
- Hovig, Eivind
- Rødland, Einar Andreas
- Tharmaratnam, Kukatharmini
- de Vos Tot Nederveen Cappel, Wouter H
- Hill, James
- Wijnen, Juul T
- Jenkins, Mark A
- Green, Kate
- Lalloo, Fiona
- Sunde, Lone
- Mints, Miriam
- Bertario, Lucio
- Pineda, Marta
- Navarro, Matilde
- Morak, Monika
- Renkonen-Sinisalo, Laura
- Valentin, Mev Dominguez
- Frayling, Ian M
- Plazzer, John-Paul
- Pylvanainen, Kirsi
- Genuardi, Maurizio
- Mecklin, Jukka-Pekka
- Moeslein, Gabriela
- Sampson, Julian R
- Capella, Gabriel
Producer: 20180720
In:
Gut vol. 67
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. [electronic resource] by
- Thompson, Bryony A
- Spurdle, Amanda B
- Plazzer, John-Paul
- Greenblatt, Marc S
- Akagi, Kiwamu
- Al-Mulla, Fahd
- Bapat, Bharati
- Bernstein, Inge
- Capellá, Gabriel
- den Dunnen, Johan T
- du Sart, Desiree
- Fabre, Aurelie
- Farrell, Michael P
- Farrington, Susan M
- Frayling, Ian M
- Frebourg, Thierry
- Goldgar, David E
- Heinen, Christopher D
- Holinski-Feder, Elke
- Kohonen-Corish, Maija
- Robinson, Kristina Lagerstedt
- Leung, Suet Yi
- Martins, Alexandra
- Moller, Pal
- Morak, Monika
- Nystrom, Minna
- Peltomaki, Paivi
- Pineda, Marta
- Qi, Ming
- Ramesar, Rajkumar
- Rasmussen, Lene Juel
- Royer-Pokora, Brigitte
- Scott, Rodney J
- Sijmons, Rolf
- Tavtigian, Sean V
- Tops, Carli M
- Weber, Thomas
- Wijnen, Juul
- Woods, Michael O
- Macrae, Finlay
- Genuardi, Maurizio
Producer: 20140325
In:
Nature genetics vol. 46
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. [electronic resource] by
- Rojnueangnit, Kitiwan
- Xie, Jing
- Gomes, Alicia
- Sharp, Angela
- Callens, Tom
- Chen, Yunjia
- Liu, Ying
- Cochran, Meagan
- Abbott, Mary-Alice
- Atkin, Joan
- Babovic-Vuksanovic, Dusica
- Barnett, Christopher P
- Crenshaw, Melissa
- Bartholomew, Dennis W
- Basel, Lina
- Bellus, Gary
- Ben-Shachar, Shay
- Bialer, Martin G
- Bick, David
- Blumberg, Bruce
- Cortes, Fanny
- David, Karen L
- Destree, Anne
- Duat-Rodriguez, Anna
- Earl, Dawn
- Escobar, Luis
- Eswara, Marthanda
- Ezquieta, Begona
- Frayling, Ian M
- Frydman, Moshe
- Gardner, Kathy
- Gripp, Karen W
- Hernández-Chico, Concepcion
- Heyrman, Kurt
- Ibrahim, Jennifer
- Janssens, Sandra
- Keena, Beth A
- Llano-Rivas, Isabel
- Leppig, Kathy
- McDonald, Marie
- Misra, Vinod K
- Mulbury, Jennifer
- Narayanan, Vinodh
- Orenstein, Naama
- Galvin-Parton, Patricia
- Pedro, Helio
- Pivnick, Eniko K
- Powell, Cynthia M
- Randolph, Linda
- Raskin, Salmo
- Rosell, Jordi
- Rubin, Karol
- Seashore, Margretta
- Schaaf, Christian P
- Scheuerle, Angela
- Schultz, Meredith
- Schorry, Elizabeth
- Schnur, Rhonda
- Siqveland, Elizabeth
- Tkachuk, Amanda
- Tonsgard, James
- Upadhyaya, Meena
- Verma, Ishwar C
- Wallace, Stephanie
- Williams, Charles
- Zackai, Elaine
- Zonana, Jonathan
- Lazaro, Conxi
- Claes, Kathleen
- Korf, Bruce
- Martin, Yolanda
- Legius, Eric
- Messiaen, Ludwine
Producer: 20160726
In:
Human mutation vol. 36
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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. [electronic resource] by
- Dominguez-Valentin, Mev
- Sampson, Julian R
- Seppälä, Toni T
- Ten Broeke, Sanne W
- Plazzer, John-Paul
- Nakken, Sigve
- Engel, Christoph
- Aretz, Stefan
- Jenkins, Mark A
- Sunde, Lone
- Bernstein, Inge
- Capella, Gabriel
- Balaguer, Francesc
- Thomas, Huw
- Evans, D Gareth
- Burn, John
- Greenblatt, Marc
- Hovig, Eivind
- de Vos Tot Nederveen Cappel, Wouter H
- Sijmons, Rolf H
- Bertario, Lucio
- Tibiletti, Maria Grazia
- Cavestro, Giulia Martina
- Lindblom, Annika
- Della Valle, Adriana
- Lopez-Köstner, Francisco
- Gluck, Nathan
- Katz, Lior H
- Heinimann, Karl
- Vaccaro, Carlos A
- Büttner, Reinhard
- Görgens, Heike
- Holinski-Feder, Elke
- Morak, Monika
- Holzapfel, Stefanie
- Hüneburg, Robert
- Knebel Doeberitz, Magnus von
- Loeffler, Markus
- Rahner, Nils
- Schackert, Hans K
- Steinke-Lange, Verena
- Schmiegel, Wolff
- Vangala, Deepak
- Pylvänäinen, Kirsi
- Renkonen-Sinisalo, Laura
- Hopper, John L
- Win, Aung Ko
- Haile, Robert W
- Lindor, Noralane M
- Gallinger, Steven
- Le Marchand, Loïc
- Newcomb, Polly A
- Figueiredo, Jane C
- Thibodeau, Stephen N
- Wadt, Karin
- Therkildsen, Christina
- Okkels, Henrik
- Ketabi, Zohreh
- Moreira, Leticia
- Sánchez, Ariadna
- Serra-Burriel, Miquel
- Pineda, Marta
- Navarro, Matilde
- Blanco, Ignacio
- Green, Kate
- Lalloo, Fiona
- Crosbie, Emma J
- Hill, James
- Denton, Oliver G
- Frayling, Ian M
- Rødland, Einar Andreas
- Vasen, Hans
- Mints, Miriam
- Neffa, Florencia
- Esperon, Patricia
- Alvarez, Karin
- Kariv, Revital
- Rosner, Guy
- Pinero, Tamara Alejandra
- Gonzalez, María Laura
- Kalfayan, Pablo
- Tjandra, Douglas
- Winship, Ingrid M
- Macrae, Finlay
- Möslein, Gabriela
- Mecklin, Jukka-Pekka
- Nielsen, Maartje
- Møller, Pål
Producer: 20200608
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
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